Biomaterial Database

Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation. 1984

R A Pfeiffer

Report on a 2-year-old, severely retarded girl with partial monosomy of 7q who exhibited not only features possibly due to the chromosomal aberration such as intrauterine dystrophy, microcephaly, odd facies, cleft palate, CHD, but also typical splithand/splitfoot malformation.

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002906	Chromosomes, Human, 6-12 and X	The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.	Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D005260	Female		Females
D005528	Foot	The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones.	Feet
D005532	Foot Deformities, Congenital	Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.	Congenital Foot Deformities,Congenital Foot Deformity,Deformities, Congenital Foot,Deformity, Congenital Foot,Foot Deformity, Congenital
D006225	Hand	The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.	Hands
D006228	Hand Deformities, Congenital	Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.	Congenital Hand Deformities,Congenital Hand Deformity,Deformities, Congenital Hand,Deformity, Congenital Hand,Hand Deformity, Congenital